Allele Registry

Canonical Allele Identifier: PA2828520642

Gene: UBE3A HGNC NCBI

ClinVar Allele:

196435

ClinVar RCV:

RCV000201266

RCV000701063

ClinVar Variation:

217365

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361390.1:p.Leu835_Lys836del	CA279164 NM_001374461.1:c.2503_2508del